{"orpha":2122,"name":"Kaposiform hemangioendothelioma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, locally aggressive, cutaneous or visceral vascular tumor characterized by either superficial lesions presenting as blue-purple infiltrated ill-defined plaques, or deep lesions usually manifesting with coagulation abnormality. They are associated in about 3 out of 4 of cases with potentially lethal thrombocytopenia and consumption coagulopathy (Kasabach-Merritt phenomenon; KMP).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2122/","orphanet_url":"https://www.orpha.net/en/disease/detail/2122","names":{"fr":{"name":"Hémangioendothéliome kaposiforme","definition":"Tumeur vasculaire cutanée ou viscérale rare, localement agressive, caractérisée par des lésions superficielles sous forme de plaques infiltrées et mal définies de couleur bleu-violacé, ou par des lésions profondes se manifestant généralement par des anomalies de la coagulation. Elles sont associées dans environ 3 cas sur 4 à une thrombocytopénie engageant potentiellement le pronostic vital et à une coagulopathie de consommation (PKM pour phénomène de Kasabach-Merritt)."},"de":{"name":"Hämangioendotheliom, kaposiformes","definition":"Ein seltener, lokal aggressiver, kutaner oder viszeraler vaskulärer Tumor, der entweder durch oberflächliche Läsionen, die sich als blau-violett infiltrierte, schlecht definierte Plaques darstellen, oder durch tiefe Läsionen, die in der Regel mit Gerinnungsanomalien einhergehen, gekennzeichnet ist. Sie gehen in etwa 3 von 4 Fällen mit einer potenziell tödlichen Thrombozytopenie und Verbrauchskoagulopathie einher (Kasabach-Merritt-Phänomen; KMP)."},"es":{"name":"Hemangioendotelioma kaposiforme","definition":"Es un tumor vascular poco frecuente, localmente agresivo, de localización cutánea o visceral, , caracterizado por lesiones superficiales que se presentan como placas mal definidas infiltradas de color azul violáceo, o lesiones profundas que suelen manifestarse con alteraciones de la coagulación. En aproximadamente 3 de cada 4 casos, se asocia con trombocitopenia potencialmente letal y coagulopatía por consumo (fenómeno de Kasabach-Merritt; FKM)."},"it":{"name":"Emangioendotelioma kaposiforme","definition":"L'emangioendotelioma kaposiforme è un tumore vascolare aggressivo molto raro, che esordisce nel periodo neonatale o durante l'infanzia sotto forma di tumori vascolari cutanei con ampie lesioni infiltranti."},"nl":{"name":"Kaposiform hemangio-endothelioom","definition":"Een zeldzame, lokaal agressieve, cutane of viscerale vasculaire tumor, gekenmerkt door ofwel oppervlakkige laesies die zich presenteren als blauw-paarse geïnfiltreerde weinig gedefinieerde plaques, ofwel diepe laesies die zich meestal manifesteren met afwijkende coagulatie. In ongeveer 3 van de 4 gevallen zijn deze geassocieerd met potentieel letale trombocytopenie en verbruikscoagulopathie (fenomeen van Kasabach-Merritt; KMP)."},"pt":{"name":"Hemangio-endotelioma kaposiforme"},"pl":{"name":"Hemangioendothelioma typu Kaposiego","definition":"Rzadki skórny lub trzewny guz naczyniowy o miejscowej złośliwości charakteryzujący się albo powierzchownymi zmianami w postaci nacieków niebiesko-fioletowych niekształtnych blaszek, albo głębokimi zmianami, zwykle objawiającymi się zaburzeniami krzepnięcia. U około 3 na 4 chorych są one związane z potencjalnie śmiertelną trombocytopenią i koagulopatią ze zużycia (zjawisko Kasabacha-Merritta)."},"cs":{"name":"Kaposiformní hemangioendoteliom"},"uk":{"name":"Капошиформна гемангіоендотеліома","definition":"A rare low-grade malignant cutaneous or visceral vascular tumour that may be associated with severe thrombopaenia with consumption coagulopathy (Kasabach-Merritt syndrome) in pediatric patients."},"zh":{"name":"卡波济型血管内皮瘤"},"tr":{"name":"Kaposiform hemanjioendotelyoma"}},"xrefs":[{"source":"ICD-10","code":"C49.9","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2F72.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"248477855"},{"source":"ICD-11","code":"XH6PA4","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1813263284"},{"source":"MONDO","code":"0016236","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537007","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1367420","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3077","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10087551","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98028,"name":"Rare circulatory system disease"},"parents":[{"orpha":673473,"name":"Borderline vascular tumor","classifications":[147,198,202]},{"orpha":71209,"name":"Rare soft tissue tumor","classifications":[202]}],"children":[],"genes":[{"symbol":"GNA14","name":"G protein subunit alpha 14","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"27476652[PMID]","hgnc":"4382","ensembl":"ENSG00000156049","omim":"604397","loci":["9q21.2"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2025-03-31","source":"32014025[PMID]_31353149[PMID]_34106442[PMID]_30085595[PMID]","terms":[{"hpo":"HP:0005520","label":"Chronic disseminated intravascular coagulation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000969","label":"Edema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0033106","label":"Elevated circulating D-dimer concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030350","label":"Erythematous papule","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025474","label":"Erythematous plaque","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011900","label":"Hypofibrinogenemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001004","label":"Lymphedema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001937","label":"Microangiopathic hemolytic anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012531","label":"Pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000967","label":"Petechiae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000979","label":"Purpura","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000975","label":"Hyperhidrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000998","label":"Hypertrichosis","frequency":"Occasional (29-5%)","criteria":null}]}}